Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.5.4.4 (adenosine deaminase)
 5,136 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Abnormalities of adenosine deaminase, a critical enzyme of the purine salvage pathway, have been reported in association with immune dysfunction, acute leukemia, and hereditary hemolytic anemia. We report data showing that erythrocyte adenosine deaminase activity is also abnormal in congenital hypoplastic anemia (the Diamond-Blackfan syndrome). Adenosine deaminase activity in erythrocytes from 12 patients (mean +/- S.D., 2.20 +/- 0.77 IU per gram of hemoglobin) was substantially greater than that observed in 50 controls (0.62 +/- 0.13 IU per gram). Enzyme activity in affected patients was also greater than that seen in cord blood or in erythrocytes from patients with hemolytic anemia, acquired aplastic anemia, Fanconi's hypoplastic anemia, acquired pure red-cell aplasia, or transient erythroblastopenia of childhood. These observations indicate that erythrocyte adenosine deaminase activity may be a unique marker for identifying congenital hypoplastic anemia.
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PMID:Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia. 664 73

Diamond-Blackfan Anemia (DBA) is a rare polygenic disorder defined by congenital hypoplastic anemia with marked decrease or absence of bone marrow erythroid precursors. Identifying the specific genetic etiology is important for counseling and clinical management. A 6-yr-old boy with a clinical diagnosis of DBA has been followed by our pediatric hematology team since birth. His clinical course includes transfusion-dependent hypoplastic anemia and progressive autoimmune cytopenias. Genetic testing failed to identify a causative mutation in any of the classical DBA-associated genes. He and his parents underwent trio whole-exome sequencing (WES) with no genetic etiology identified initially. Clinical persistence and suspicion led to testing for adenosine deaminase 2 (ADA2) activity and whole-genome sequencing (WGS) that identified compound heterozygous pathogenic mutations in the ADA2-encoding CECR1 gene, a recently appreciated etiology for congenital hypoplastic anemia. This case illustrates current challenges in genetic testing and how they can be overcome by multidisciplinary expertise in clinical medicine and genomics.
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PMID:Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia. 3055 13